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Updated: Mar 14, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Maternal Serum Aneuploidy Screen and Adverse Pregnancy Outcomes
Koumudi Godbole1, Aparna Kulkarni2, Asawari Kanade3
1Department of Genetic Medicine, Deenanath Mangeshkar Hospital and Research Center, Erandawane, Pune, 411004 India.
Objective:
To find out whether maternal serum screening for fetal chromosomal aneuploidy predicts adverse pregnancy outcomes.
Methods:
A two-year retrospective case-control study was conducted at a tertiary hospital. Pregnant women with a high-risk serum screen but with chromosomally normal fetuses (n = 189) were compared to those with low-risk screen (controls, n = 157) for adverse pregnancy outcomes.
Results:
Women with high-risk double marker or combined screen were found to have higher prevalence of LBW [OR 2.56; 95 % CI (1.01-6.53), p < 0.05] and PT [OR 2.93; 95 % CI (1.11-7.65), p < 0.05], while women with high-risk triple screen had higher prevalence of PIH [OR 3.72; 95 % CI (1.23-11.18); p < 0.05], Oligo [OR 4.50; 95 % CI (1.30-15.64); p < 0.05], delivery by C-section [OR 2.51; 95 % CI (1.41-4.47); p < 0.005] as compared to low-risk women. PAPP-A was found to be a significant predictor of birth weight (R (2) = 12.2 %, β ± SE = 0.224 ± 0.069; p < 0.005) and gestational age (R (2) = 4.9 %, β ± SE = 0.613 ± 0.296; p < 0.05). Beta hCG in first and hCG in second trimester predicted oligohydramnios (R (2) = 9.2 %, β ± SE = -0.077 ± 0.025; p < 0.005). The areas under the ROC curves of PAPP-A for LBW and PT were 0.70(p < 0.01) and 0.684 (p < 0.05), respectively.
Conclusion:
A "high-risk" maternal serum screen with abnormal PAPP-A and/or beta hCG/HCG is associated with adverse pregnancy outcomes and may help identifying women requiring additional fetal surveillance.
More Related Videos
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
12:32Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
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